Canonical Allele Identifier: CA502176347

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 1061365
• ClinVar RCV Id: RCV001370934
• dbSNP Id: rs1567819545
• gnomAD v4: 17-80099529-C-T
• MyVariant Identifiers: chr17:g.78073328C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099529C>T , CM000679.2:g.80099529C>T	GRCh38
NC_000017.10:g.78073328C>T , CM000679.1:g.78073328C>T	GRCh37
NC_000017.9:g.75687923C>T	NCBI36
NG_009822.1:g.2974C>T , LRG_673:g.2974C>T
NG_029761.1:g.67898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3183C>T MANE Select	ENSP00000380679.4:p.Asn1061=
ENST00000397545.8:c.3183C>T	ENSP00000380679.4:p.Asn1061=
ENST00000574799.5:n.2720C>T
NM_017950.3:c.3183C>T	NP_060420.2:p.Asn1061=
XM_011524963.1:c.3093C>T	XP_011523265.1:p.Asn1031=
XM_011524964.1:c.2004C>T	XP_011523266.1:p.Asn668=
XM_011524963.3:c.3093C>T	XP_011523265.1:p.Asn1031=
XM_011524964.3:c.2004C>T	XP_011523266.1:p.Asn668=
XM_024450821.1:c.3093C>T	XP_024306589.1:p.Asn1031=
XR_934495.2:n.3301C>T
NM_017950.4:c.3183C>T MANE Select	NP_060420.2:p.Asn1061=